Variant report

Variant	rs310439
Chromosome Location	chr19:56176345-56176346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56164975..56168855-chr19:56176069..56182259,9	MCF-7	breast:
2	chr19:56176017..56178095-chr19:56199906..56202183,2	K562	blood:

Variant related genes	Relation type
ENSG00000063244	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11545669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310470	1.00[AFR][1000 genomes]
rs310471	1.00[AFR][1000 genomes]
rs507498	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56038728	1.00[AFR][1000 genomes]
rs57063593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581023	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636466	1.00[AFR][1000 genomes]
rs636467	1.00[AFR][1000 genomes]
rs637788	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679577	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680444	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246799	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56169600-56181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:56170000-56181600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:56170000-56181600	Strong transcription	Aorta	Aorta
4	chr19:56170000-56181800	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:56170200-56178400	Strong transcription	NHEK	skin
7	chr19:56170200-56181600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:56170200-56181800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:56170200-56182200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:56170200-56182400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:56170200-56182400	Strong transcription	Rectal Smooth Muscle	rectum
12	chr19:56170200-56184000	Strong transcription	Primary T cells from cord blood	blood
13	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
14	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
16	chr19:56170400-56177400	Strong transcription	Fetal Intestine Small	intestine
17	chr19:56170400-56179800	Strong transcription	Hela-S3	cervix
18	chr19:56170400-56181600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:56170400-56181600	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:56170400-56182200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:56170400-56183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
24	chr19:56170600-56176800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr19:56170600-56177800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:56170600-56178400	Strong transcription	HepG2	liver
27	chr19:56170600-56178600	Strong transcription	Brain Angular Gyrus	brain
28	chr19:56170600-56178800	Strong transcription	Esophagus	oesophagus
29	chr19:56170600-56181600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr19:56170600-56181600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:56170600-56181600	Strong transcription	Thymus	Thymus
32	chr19:56170600-56182400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:56170600-56182400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:56170800-56177400	Strong transcription	Gastric	stomach
35	chr19:56170800-56177600	Strong transcription	Right Ventricle	heart
36	chr19:56170800-56178200	Strong transcription	Fetal Intestine Large	intestine
37	chr19:56170800-56179000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr19:56170800-56181600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:56170800-56181600	Strong transcription	Colonic Mucosa	Colon
40	chr19:56170800-56182600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:56170800-56182800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
44	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
45	chr19:56171000-56178200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:56171000-56181400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr19:56171000-56181600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:56171000-56181600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:56171000-56181600	Strong transcription	Left Ventricle	heart
50	chr19:56171000-56181800	Strong transcription	Brain Germinal Matrix	brain

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